Café au lait spots, or café au lait macules, are flat, pigmented birthmarks.[1] The name café au lait is French for "coffee with milk" and refers to their light-brown color. They are also called "giraffe spots," or "coast of Maine spots," which refers to their jagged borders.[2]

They are caused by a collection of pigment-producing melanocytes in the epidermis of the skin.[3]

These spots are typically permanent and may grow or increase in number over time.[4]

Having six or more café au lait spots greater than 5 mm in diameter before puberty, or greater than 15 mm in diameter after puberty, is a diagnostic feature of neurofibromatosis type I (NF-1), but other features are required to diagnose NF-1.[3] Familial multiple café au lait spots have been observed without an NF-1 diagnosis.[8]

Diagnosis is visual with measurement of spot size. The number of spots can have clinical significance for diagnosis of associated disorders such as Neurofibromatosis type I. Six or more spots of at least 5mm in diameter in pre-pubertal children and at least 15mm in post-pubertal individuals is one of the major diagnostic criteria for NF1.[9]

The size and shape of the spots can vary in terms of description. In Neurofibromatosis Type 1, the spots tend to be described as ovoid, with smooth borders. In other disorders, the spots can be less ovoid, with jagged borders. In Neurofibromatosis Type 1, the spots tend to resemble the "coast of California," rather than the "coast of Maine," meaning the edges are smoother and more linear. [3]

Café au lait spots can be removed with lasers.[10] Results are variable as the spots are often not completely removed or can come back after treatment. Often, a test spot is treated first to help predict the likelihood of treatment success.[11]